Variant position: 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 579 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DNSEAEEEEKAPVLPESTEG RELTQGPAESSSLSGCGSWQ--P
Mouse DNSEAEEEEKAPVTPEGAEG RELTSCPTESSFLSACGSWQ-
Rat DNSEAEEEEKAPATAEGAEG RELASCPTESSFLSACGSWQ-
Bovine DNSEAEEEEKGPALPEGAEG RELTKCPAESSLLSDCGAWQ-
Xenopus tropicalis EVADG-EEGRPRLQPELMEG RELSKCPTESSVLSDCS-WNM
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 579 Folliculin
302 – 302 Phosphoserine
198 – 579 Missing. In isoform 3.
291 – 342 DLEEESESWDNSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRK -> GEAGVLLPGPWPGWPWGGTSCLLSWQESLREGNAALNQPRTSLREAHPPISV. In isoform 2.
Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
da Silva N.F.; Gentle D.; Hesson L.B.; Morton D.G.; Latif F.; Maher E.R.;
J. Med. Genet. 40:820-824(2003)
Cited for: POSSIBLE INVOLVEMENT IN RENAL CELL CARCINOMA AND COLORECTAL CANCER; VARIANTS VAL-238; GLN-320; GLY-392 AND SER-444;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.